ClinVar Miner

List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 27

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 355
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) rs138022576 0.00060
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) rs117788141 0.00055
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) rs368624802 0.00022
NM_024537.4(CARS2):c.1475G>A (p.Arg492Gln) rs564455691 0.00017
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) rs148857540 0.00015
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00010
NM_024537.4(CARS2):c.1592G>A (p.Arg531Gln) rs371876889 0.00009
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024537.4(CARS2):c.446A>G (p.Gln149Arg) rs367861934 0.00008
NM_024537.4(CARS2):c.1195C>T (p.Leu399Phe) rs202176952 0.00007
NM_024537.4(CARS2):c.739G>A (p.Gly247Arg) rs372177940 0.00007
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) rs146878400 0.00006
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006
NM_024537.4(CARS2):c.1579G>A (p.Asp527Asn) rs150780076 0.00006
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) rs760818887 0.00006
NM_024537.4(CARS2):c.1013A>G (p.Asp338Gly) rs373398364 0.00005
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) rs372734645 0.00005
NM_024537.4(CARS2):c.224+4G>A rs1225069963 0.00005
NM_024537.4(CARS2):c.37C>G (p.Pro13Ala) rs1044669719 0.00005
NM_024537.4(CARS2):c.1194-3C>T rs372760421 0.00004
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) rs371625448 0.00004
NM_024537.4(CARS2):c.170G>C (p.Ser57Thr) rs896892259 0.00004
NM_024537.4(CARS2):c.404C>T (p.Ser135Phe) rs781364169 0.00004
NM_024537.4(CARS2):c.1037G>A (p.Arg346Gln) rs773315723 0.00003
NM_024537.4(CARS2):c.1040G>A (p.Ser347Asn) rs1052359973 0.00003
NM_024537.4(CARS2):c.10A>T (p.Thr4Ser) rs1037184355 0.00003
NM_024537.4(CARS2):c.1474C>T (p.Arg492Trp) rs200151026 0.00003
NM_024537.4(CARS2):c.1523C>T (p.Thr508Met) rs376713706 0.00003
NM_024537.4(CARS2):c.1623+1G>C rs1053982606 0.00003
NM_024537.4(CARS2):c.1649G>A (p.Trp550Ter) rs375213252 0.00003
NM_024537.4(CARS2):c.1688C>T (p.Ala563Val) rs542366222 0.00003
NM_024537.4(CARS2):c.269A>G (p.His90Arg) rs752180849 0.00003
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) rs148098469 0.00003
NM_024537.4(CARS2):c.571+6G>T rs756061981 0.00003
NM_024537.4(CARS2):c.701C>T (p.Ala234Val) rs2062972972 0.00003
NM_024537.4(CARS2):c.71C>T (p.Ala24Val) rs990590876 0.00003
NM_024537.4(CARS2):c.1021C>T (p.Arg341Trp) rs138951398 0.00002
NM_024537.4(CARS2):c.1112G>A (p.Gly371Asp) rs765515018 0.00002
NM_024537.4(CARS2):c.1118T>C (p.Phe373Ser) rs753952896 0.00002
NM_024537.4(CARS2):c.1129G>A (p.Ala377Thr) rs547702190 0.00002
NM_024537.4(CARS2):c.1133G>A (p.Arg378His) rs770630631 0.00002
NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys) rs144664137 0.00002
NM_024537.4(CARS2):c.1481G>A (p.Arg494Gln) rs748191524 0.00002
NM_024537.4(CARS2):c.1541A>G (p.Gln514Arg) rs753574371 0.00002
NM_024537.4(CARS2):c.224+3G>A rs772740990 0.00002
NM_024537.4(CARS2):c.292G>C (p.Asp98His) rs774407462 0.00002
NM_024537.4(CARS2):c.442A>G (p.Lys148Glu) rs763725050 0.00002
NM_024537.4(CARS2):c.470T>A (p.Leu157His) rs769254654 0.00002
NM_024537.4(CARS2):c.545G>A (p.Arg182His) rs769307767 0.00002
NM_024537.4(CARS2):c.671G>A (p.Arg224His) rs199589765 0.00002
NM_024537.4(CARS2):c.94C>G (p.Arg32Gly) rs924724206 0.00002
NM_024537.4(CARS2):c.1012G>A (p.Asp338Asn) rs577161897 0.00001
NM_024537.4(CARS2):c.101C>G (p.Ala34Gly) rs567317952 0.00001
NM_024537.4(CARS2):c.1036C>T (p.Arg346Trp) rs759804272 0.00001
NM_024537.4(CARS2):c.1048C>T (p.Arg350Cys) rs773231493 0.00001
NM_024537.4(CARS2):c.1049G>A (p.Arg350His) rs1195058620 0.00001
NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly) rs745633983 0.00001
NM_024537.4(CARS2):c.1080G>A (p.Met360Ile) rs1888255028 0.00001
NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter) rs1439475292 0.00001
NM_024537.4(CARS2):c.1135G>A (p.Ala379Thr) rs748825203 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) rs916018424 0.00001
NM_024537.4(CARS2):c.1207A>G (p.Lys403Glu) rs762700157 0.00001
NM_024537.4(CARS2):c.1250C>G (p.Pro417Arg) rs766539038 0.00001
NM_024537.4(CARS2):c.126G>C (p.Trp42Cys) rs1019467802 0.00001
NM_024537.4(CARS2):c.1288G>A (p.Gly430Arg) rs113033050 0.00001
NM_024537.4(CARS2):c.1292A>G (p.Asn431Ser) rs548716694 0.00001
NM_024537.4(CARS2):c.1307C>T (p.Ala436Val) rs530176962 0.00001
NM_024537.4(CARS2):c.1318-10T>A rs773908976 0.00001
NM_024537.4(CARS2):c.1321C>A (p.Pro441Thr) rs777089715 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 0.00001
NM_024537.4(CARS2):c.1334G>T (p.Arg445Ile) rs1594210396 0.00001
NM_024537.4(CARS2):c.1352G>A (p.Gly451Asp) rs1328163225 0.00001
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) rs1047045222 0.00001
NM_024537.4(CARS2):c.1405G>A (p.Ala469Thr) rs868665261 0.00001
NM_024537.4(CARS2):c.1442C>T (p.Ala481Val) rs1263877433 0.00001
NM_024537.4(CARS2):c.1463A>G (p.Asp488Gly) rs1484021017 0.00001
NM_024537.4(CARS2):c.1480C>T (p.Arg494Trp) rs200697273 0.00001
NM_024537.4(CARS2):c.1492C>T (p.Arg498Trp) rs758217572 0.00001
NM_024537.4(CARS2):c.1534C>T (p.Arg512Trp) rs199527718 0.00001
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) rs143777330 0.00001
NM_024537.4(CARS2):c.1561C>T (p.Pro521Ser) rs767008467 0.00001
NM_024537.4(CARS2):c.1588C>T (p.Arg530Cys) rs1368294658 0.00001
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) rs566143026 0.00001
NM_024537.4(CARS2):c.1623+3G>A rs554100218 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 0.00001
NM_024537.4(CARS2):c.1666A>G (p.Arg556Gly) rs1566629935 0.00001
NM_024537.4(CARS2):c.1667G>C (p.Arg556Thr) rs1191970053 0.00001
NM_024537.4(CARS2):c.1676A>G (p.Asp559Gly) rs756477588 0.00001
NM_024537.4(CARS2):c.1685C>G (p.Ser562Ter) rs1229833841 0.00001
NM_024537.4(CARS2):c.178G>C (p.Gly60Arg) rs199874662 0.00001
NM_024537.4(CARS2):c.217G>T (p.Ala73Ser) rs761282112 0.00001
NM_024537.4(CARS2):c.2T>G (p.Met1Arg) rs774110184 0.00001
NM_024537.4(CARS2):c.301C>G (p.Arg101Gly) rs777672253 0.00001
NM_024537.4(CARS2):c.358G>A (p.Asp120Asn) rs988495210 0.00001
NM_024537.4(CARS2):c.373A>G (p.Ile125Val) rs774544603 0.00001
NM_024537.4(CARS2):c.393+1G>A rs1298568967 0.00001
NM_024537.4(CARS2):c.394A>G (p.Met132Val) rs2063353822 0.00001
NM_024537.4(CARS2):c.398A>G (p.Asn133Ser) rs748579020 0.00001
NM_024537.4(CARS2):c.451A>G (p.Met151Val) rs1238769844 0.00001
NM_024537.4(CARS2):c.478A>C (p.Thr160Pro) rs1360090647 0.00001
NM_024537.4(CARS2):c.509C>T (p.Pro170Leu) rs918590287 0.00001
NM_024537.4(CARS2):c.521C>A (p.Ser174Tyr) rs1393002060 0.00001
NM_024537.4(CARS2):c.527T>C (p.Ile176Thr) rs767243208 0.00001
NM_024537.4(CARS2):c.571+5G>C rs1005137257 0.00001
NM_024537.4(CARS2):c.601G>A (p.Gly201Arg) rs1305604439 0.00001
NM_024537.4(CARS2):c.632T>C (p.Val211Ala) rs773483383 0.00001
NM_024537.4(CARS2):c.634C>T (p.Pro212Ser) rs748268508 0.00001
NM_024537.4(CARS2):c.646G>A (p.Gly216Arg) rs768491774 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655+4G>A rs369200736 0.00001
NM_024537.4(CARS2):c.655+6T>C rs2063202198 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024537.4(CARS2):c.662C>G (p.Ser221Cys) rs201064390 0.00001
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) rs772065497 0.00001
NM_024537.4(CARS2):c.73G>A (p.Gly25Arg) rs1390223276 0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu) rs557671802 0.00001
NM_024537.4(CARS2):c.766G>A (p.Glu256Lys) rs756239121 0.00001
NM_024537.4(CARS2):c.778A>G (p.Ile260Val) rs1404698696 0.00001
NM_024537.4(CARS2):c.84G>T (p.Trp28Cys) rs1388391654 0.00001
NM_024537.4(CARS2):c.871G>A (p.Glu291Lys) rs749694651 0.00001
NM_024537.4(CARS2):c.880C>T (p.His294Tyr) rs201349963 0.00001
NM_024537.4(CARS2):c.884A>C (p.Gln295Pro) rs781605848 0.00001
NM_024537.4(CARS2):c.937G>A (p.Gly313Ser) rs760461507 0.00001
NM_024537.4(CARS2):c.954G>A (p.Met318Ile) rs767180583 0.00001
NM_024537.4(CARS2):c.961T>G (p.Ser321Ala) rs759013193 0.00001
NM_024537.4(CARS2):c.976A>G (p.Ile326Val) rs2062564847 0.00001
NM_024537.4(CARS2):c.987+5C>T rs1465957770 0.00001
NC_000013.10:g.(?_111268022)_(111329470_?)dup
NC_000013.10:g.(?_111286872)_(111319840_?)dup
NC_000013.10:g.(?_111293884)_(111319830_?)dup
NC_000013.10:g.(?_111293884)_(111358440_?)dup
NC_000013.10:g.(?_111315778)_(111315885_?)del
NC_000013.10:g.(?_111340048)_(111358440_?)dup
NC_000013.10:g.(?_111353765)_(111353922_?)del
NC_000013.11:g.(?_110641517)_(110667493_?)dup
NC_000013.11:g.(?_110641517)_(110677123_?)dup
NC_000013.11:g.(?_110667320)_(110705591_?)dup
NC_000013.11:g.110646091del rs1475142913
NM_024537.4(CARS2):c.1006T>G (p.Ser336Ala) rs1594239546
NM_024537.4(CARS2):c.1007C>T (p.Ser336Phe) rs556565233
NM_024537.4(CARS2):c.1025TCT[1] (p.Phe343del) rs1420184025
NM_024537.4(CARS2):c.1038del (p.Ser347fs) rs2139700269
NM_024537.4(CARS2):c.1040_1041delinsTT (p.Ser347Ile) rs2139700229
NM_024537.4(CARS2):c.1048C>G (p.Arg350Gly) rs773231493
NM_024537.4(CARS2):c.1055-3C>T
NM_024537.4(CARS2):c.1059C>G (p.Ile353Met) rs200079151
NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1075G>A (p.Ala359Thr) rs570568500
NM_024537.4(CARS2):c.107G>C (p.Gly36Ala) rs1271844931
NM_024537.4(CARS2):c.107G>T (p.Gly36Val)
NM_024537.4(CARS2):c.10A>G (p.Thr4Ala) rs1037184355
NM_024537.4(CARS2):c.1109T>A (p.Leu370Gln) rs1888250085
NM_024537.4(CARS2):c.1126G>A (p.Asp376Asn) rs1270277121
NM_024537.4(CARS2):c.112C>T (p.Arg38Cys) rs776199362
NM_024537.4(CARS2):c.1138T>C (p.Tyr380His) rs1888244220
NM_024537.4(CARS2):c.1157C>T (p.Ala386Val) rs1186393420
NM_024537.4(CARS2):c.115G>T (p.Gly39Trp) rs1330266756
NM_024537.4(CARS2):c.1168G>A (p.Val390Ile) rs138372705
NM_024537.4(CARS2):c.1168G>C (p.Val390Leu) rs138372705
NM_024537.4(CARS2):c.1177G>A (p.Ala393Thr) rs868498923
NM_024537.4(CARS2):c.1192_1193del (p.Arg398fs)
NM_024537.4(CARS2):c.1193+5G>T
NM_024537.4(CARS2):c.1193G>A (p.Arg398Lys)
NM_024537.4(CARS2):c.1216G>A (p.Val406Met)
NM_024537.4(CARS2):c.1227dup (p.Ala411fs) rs2139679613
NM_024537.4(CARS2):c.122C>A (p.Ala41Asp)
NM_024537.4(CARS2):c.1253G>A (p.Arg418Lys)
NM_024537.4(CARS2):c.1286A>G (p.His429Arg)
NM_024537.4(CARS2):c.1291A>G (p.Asn431Asp)
NM_024537.4(CARS2):c.1295G>T (p.Gly432Val)
NM_024537.4(CARS2):c.12_33dup (p.Pro12fs) rs1415686449
NM_024537.4(CARS2):c.1306del (p.Ala436fs) rs1473469742
NM_024537.4(CARS2):c.1308_1317+5del rs2139679182
NM_024537.4(CARS2):c.1310C>A (p.Ser437Tyr) rs750186107
NM_024537.4(CARS2):c.1311_1312insTTC (p.Ser437_Leu438insPhe) rs1339301287
NM_024537.4(CARS2):c.1313T>G (p.Leu438Arg) rs2139679199
NM_024537.4(CARS2):c.1318-8T>A rs1044806231
NM_024537.4(CARS2):c.133C>A (p.Pro45Thr)
NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)
NM_024537.4(CARS2):c.1391T>C (p.Val464Ala)
NM_024537.4(CARS2):c.1402C>G (p.Leu468Val)
NM_024537.4(CARS2):c.1416+5G>A
NM_024537.4(CARS2):c.1416G>A (p.Gln472=)
NM_024537.4(CARS2):c.1417-2A>C
NM_024537.4(CARS2):c.1417T>G (p.Tyr473Asp) rs1479335550
NM_024537.4(CARS2):c.1418A>G (p.Tyr473Cys) rs1232251739
NM_024537.4(CARS2):c.1420G>A (p.Val474Ile) rs774709224
NM_024537.4(CARS2):c.1426G>A (p.Gly476Arg)
NM_024537.4(CARS2):c.1427G>T (p.Gly476Val) rs902904499
NM_024537.4(CARS2):c.1430A>G (p.Asp477Gly) rs1887500330
NM_024537.4(CARS2):c.1438G>A (p.Glu480Lys) rs192532265
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) rs192532265
NM_024537.4(CARS2):c.143G>T (p.Arg48Leu)
NM_024537.4(CARS2):c.1454G>A (p.Gly485Asp)
NM_024537.4(CARS2):c.1457_1473dup (p.Arg492fs) rs2139667373
NM_024537.4(CARS2):c.1459G>C (p.Val487Leu)
NM_024537.4(CARS2):c.1475G>C (p.Arg492Pro)
NM_024537.4(CARS2):c.1486_1497del (p.Lys496_Gln499del) rs1018661935
NM_024537.4(CARS2):c.1489dup (p.Val497fs) rs1328662776
NM_024537.4(CARS2):c.1490T>C (p.Val497Ala)
NM_024537.4(CARS2):c.1492C>A (p.Arg498=) rs758217572
NM_024537.4(CARS2):c.1493G>A (p.Arg498Gln) rs778546592
NM_024537.4(CARS2):c.1493G>C (p.Arg498Pro)
NM_024537.4(CARS2):c.1499T>G (p.Phe500Cys)
NM_024537.4(CARS2):c.149C>T (p.Thr50Met) rs756212584
NM_024537.4(CARS2):c.1502C>T (p.Ala501Val) rs756833981
NM_024537.4(CARS2):c.1504C>A (p.Leu502Met) rs2139667208
NM_024537.4(CARS2):c.1508C>T (p.Ala503Val)
NM_024537.4(CARS2):c.1510A>G (p.Met504Val) rs762583126
NM_024537.4(CARS2):c.1512G>A (p.Met504Ile)
NM_024537.4(CARS2):c.1523C>A (p.Thr508Lys)
NM_024537.4(CARS2):c.1528G>A (p.Asp510Asn) rs1195458572
NM_024537.4(CARS2):c.1540C>A (p.Gln514Lys) rs953211656
NM_024537.4(CARS2):c.1540C>T (p.Gln514Ter) rs953211656
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322
NM_024537.4(CARS2):c.1568T>C (p.Leu523Pro) rs2139666898
NM_024537.4(CARS2):c.1570G>A (p.Glu524Lys) rs1214379430
NM_024537.4(CARS2):c.1570G>C (p.Glu524Gln) rs1214379430
NM_024537.4(CARS2):c.1574C>T (p.Ala525Val) rs750963303
NM_024537.4(CARS2):c.1598T>C (p.Leu533Pro) rs2139666763
NM_024537.4(CARS2):c.160G>T (p.Val54Leu)
NM_024537.4(CARS2):c.1615A>C (p.Asn539His)
NM_024537.4(CARS2):c.1623+3G>C rs554100218
NM_024537.4(CARS2):c.1623+4A>G rs1887454172
NM_024537.4(CARS2):c.1624-1_1624inv
NM_024537.4(CARS2):c.1627A>G (p.Arg543Gly) rs1887298440
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) rs1594195081
NM_024537.4(CARS2):c.1630A>G (p.Ser544Gly) rs1887297938
NM_024537.4(CARS2):c.1634G>C (p.Ser545Thr) rs754579725
NM_024537.4(CARS2):c.1637C>T (p.Thr546Ile)
NM_024537.4(CARS2):c.1648T>G (p.Trp550Gly) rs2139663433
NM_024537.4(CARS2):c.164A>G (p.Tyr55Cys)
NM_024537.4(CARS2):c.1654C>A (p.Leu552Met)
NM_024537.4(CARS2):c.1678C>T (p.Gln560Ter)
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) rs1887287265
NM_024537.4(CARS2):c.1692C>G (p.Gly564=) rs1415215167
NM_024537.4(CARS2):c.1692_1693insGG (p.Ter565GlyextTer?)
NM_024537.4(CARS2):c.1693T>G (p.Ter565Gly) rs1594194614
NM_024537.4(CARS2):c.1695A>C (p.Ter565Cys)
NM_024537.4(CARS2):c.179G>A (p.Gly60Glu) rs868325979
NM_024537.4(CARS2):c.19G>A (p.Gly7Ser)
NM_024537.4(CARS2):c.1A>G (p.Met1Val) rs1456556476
NM_024537.4(CARS2):c.1A>T (p.Met1Leu) rs1456556476
NM_024537.4(CARS2):c.200T>C (p.Val67Ala) rs1566366122
NM_024537.4(CARS2):c.204del (p.His69fs)
NM_024537.4(CARS2):c.217G>A (p.Ala73Thr) rs761282112
NM_024537.4(CARS2):c.221C>T (p.Ser74Phe) rs2063932913
NM_024537.4(CARS2):c.223T>C (p.Trp75Arg)
NM_024537.4(CARS2):c.224+5G>A rs1594436730
NM_024537.4(CARS2):c.224+7C>A
NM_024537.4(CARS2):c.232T>C (p.Cys78Arg) rs2139945104
NM_024537.4(CARS2):c.238C>A (p.Pro80Thr) rs1408025958
NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)
NM_024537.4(CARS2):c.254_255del (p.His85fs) rs1204835445
NM_024537.4(CARS2):c.25G>C (p.Gly9Arg) rs1465681823
NM_024537.4(CARS2):c.262C>T (p.Leu88Phe) rs1450978669
NM_024537.4(CARS2):c.275+5G>A
NM_024537.4(CARS2):c.27C>T (p.Gly9=) rs1270397975
NM_024537.4(CARS2):c.281A>G (p.Tyr94Cys) rs775441980
NM_024537.4(CARS2):c.282T>A (p.Tyr94Ter) rs374089139
NM_024537.4(CARS2):c.29T>C (p.Leu10Pro) rs1326381296
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) rs774110184
NM_024537.4(CARS2):c.301C>T (p.Arg101Ter) rs777672253
NM_024537.4(CARS2):c.302G>T (p.Arg101Leu) rs112070421
NM_024537.4(CARS2):c.308T>G (p.Ile103Ser)
NM_024537.4(CARS2):c.31G>T (p.Gly11Cys)
NM_024537.4(CARS2):c.323T>C (p.Phe108Ser) rs201577762
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) rs201577762
NM_024537.4(CARS2):c.342G>A (p.Met114Ile) rs139689196
NM_024537.4(CARS2):c.344T>C (p.Val115Ala)
NM_024537.4(CARS2):c.376A>G (p.Ile126Val) rs150341415
NM_024537.4(CARS2):c.37C>T (p.Pro13Ser)
NM_024537.4(CARS2):c.383G>C (p.Arg128Thr) rs1368783369
NM_024537.4(CARS2):c.38C>T (p.Pro13Leu) rs948688494
NM_024537.4(CARS2):c.38del (p.Pro13fs) rs1412483498
NM_024537.4(CARS2):c.393+5G>A rs2139928226
NM_024537.4(CARS2):c.394A>T (p.Met132Leu) rs2063353822
NM_024537.4(CARS2):c.3G>T (p.Met1Ile) rs2139948769
NM_024537.4(CARS2):c.409G>A (p.Ala137Thr)
NM_024537.4(CARS2):c.419C>T (p.Ala140Val)
NM_024537.4(CARS2):c.428A>G (p.Tyr143Cys)
NM_024537.4(CARS2):c.431A>G (p.Glu144Gly) rs150606981
NM_024537.4(CARS2):c.465+3A>G
NM_024537.4(CARS2):c.466-1G>A rs770282381
NM_024537.4(CARS2):c.48G>A (p.Gln16=) rs2139948147
NM_024537.4(CARS2):c.499G>A (p.Glu167Lys) rs753936012
NM_024537.4(CARS2):c.516A>G (p.Ile172Met) rs2063344998
NM_024537.4(CARS2):c.526A>G (p.Ile176Val)
NM_024537.4(CARS2):c.527T>G (p.Ile176Ser) rs767243208
NM_024537.4(CARS2):c.535A>C (p.Ile179Leu) rs751237567
NM_024537.4(CARS2):c.53C>T (p.Ala18Val)
NM_024537.4(CARS2):c.542C>T (p.Ala181Val) rs1443254892
NM_024537.4(CARS2):c.562A>G (p.Thr188Ala) rs1594372405
NM_024537.4(CARS2):c.566C>T (p.Ala189Val) rs1456864472
NM_024537.4(CARS2):c.571+2T>C rs749363417
NM_024537.4(CARS2):c.575A>G (p.Asn192Ser) rs1270654557
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.625G>A (p.Gly209Ser)
NM_024537.4(CARS2):c.625G>T (p.Gly209Cys) rs760043245
NM_024537.4(CARS2):c.641C>T (p.Pro214Leu) rs543389950
NM_024537.4(CARS2):c.655G>C (p.Ala219Pro) rs727505361
NM_024537.4(CARS2):c.656-16C>A rs755708345
NM_024537.4(CARS2):c.656C>T (p.Ala219Val) rs541127961
NM_024537.4(CARS2):c.666C>A (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.666C>G (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.670C>T (p.Arg224Cys) rs1323009856
NM_024537.4(CARS2):c.676G>T (p.Ala226Ser)
NM_024537.4(CARS2):c.68_71dup (p.His27fs)
NM_024537.4(CARS2):c.700del (p.Ala234fs) rs2139808347
NM_024537.4(CARS2):c.728C>T (p.Ala243Val) rs2062971648
NM_024537.4(CARS2):c.742C>G (p.Pro248Ala) rs1465849835
NM_024537.4(CARS2):c.771C>G (p.Cys257Trp)
NM_024537.4(CARS2):c.781G>A (p.Ala261Thr) rs374751888
NM_024537.4(CARS2):c.781G>T (p.Ala261Ser) rs374751888
NM_024537.4(CARS2):c.785G>C (p.Ser262Thr)
NM_024537.4(CARS2):c.786-3C>T
NM_024537.4(CARS2):c.788T>C (p.Met263Thr) rs2139765950
NM_024537.4(CARS2):c.845A>G (p.His282Arg) rs2139765647
NM_024537.4(CARS2):c.851_852delinsGG (p.Glu284Gly) rs1594296703
NM_024537.4(CARS2):c.856G>A (p.Glu286Lys)
NM_024537.4(CARS2):c.859A>G (p.Ile287Val)
NM_024537.4(CARS2):c.85C>T (p.Pro29Ser) rs934745570
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg) rs1240392926
NM_024537.4(CARS2):c.874G>A (p.Val292Ile) rs1213190525
NM_024537.4(CARS2):c.875T>C (p.Val292Ala) rs778341096
NM_024537.4(CARS2):c.878_879del (p.Phe293fs) rs1258446331
NM_024537.4(CARS2):c.881A>G (p.His294Arg) rs1209069182
NM_024537.4(CARS2):c.886T>G (p.Cys296Gly) rs751712957
NM_024537.4(CARS2):c.888C>A (p.Cys296Ter) rs780225759
NM_024537.4(CARS2):c.889G>A (p.Glu297Lys) rs368410574
NM_024537.4(CARS2):c.914A>G (p.His305Arg) rs761552163
NM_024537.4(CARS2):c.920-3C>G
NM_024537.4(CARS2):c.922C>G (p.His308Asp) rs2062566720
NM_024537.4(CARS2):c.931G>A (p.Ala311Thr) rs763808514
NM_024537.4(CARS2):c.943GAA[1] (p.Glu316del) rs2062565908
NM_024537.4(CARS2):c.946G>A (p.Glu316Lys)
NM_024537.4(CARS2):c.973T>A (p.Tyr325Asn) rs1464734976
NM_024537.4(CARS2):c.977T>C (p.Ile326Thr)
NM_024537.4(CARS2):c.982A>G (p.Ile328Val) rs1448672862
NM_024537.4(CARS2):c.987+6G>A rs1479157443
NM_024537.4(CARS2):c.988-1G>A
NM_024537.4(CARS2):c.98C>G (p.Ala33Gly) rs1566366752
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) rs1566366752
NM_024537.4(CARS2):c.991T>G (p.Phe331Val) rs2139700565
NM_024537.4(CARS2):c.997A>G (p.Lys333Glu) rs2062198993

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